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Gene Therapy for Leber Congenital Amaurosis (RPE65 Mutations): University of Pennsylvania/University of Florida

RECRUITING

Description: This Phase I clinical trial, made possible through preclinical studies funded by the Foundation, is evaluating the safety of gene replacement therapy for people with Leber congenital amaurosis (LCA) caused by mutations in the gene RPE65. Efficacy is being evaluated, as well. Initially, nine participants (children and adults) received a single subretinal injection of the treatment in one eye. The treatment consists of a corrective RPE65 gene, which is delivered to photoreceptors in the retina by an adeno-associated virus (AAV), a therapeutic man-made virus. The treatment has restored significant vision for some participants (see articles below).

Trial Status: Ongoing; still recruiting participants eight years of age and older; awaiting report of additional study data.